{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T01:37:14Z","timestamp":1790473034511,"version":"4.1.0"},"reference-count":48,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2019,1,28]],"date-time":"2019-01-28T00:00:00Z","timestamp":1548633600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2019,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Chromosome 8p deletions are associated with a variety of conditions, including cardiac abnormalities, mental, behavioral problems with variable morphotype and genitourinary anomalies in boys.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We describe the follow\u2010up over almost 15\u00a0years of a boy who initially presented with perineal hypospadias with a micropenis and cryptorchidism with 46,<jats:styled-content style=\"fixed-case\">XY DSD<\/jats:styled-content>.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Imaging, pathology, and hormonal exploration suggested gonadal dysgenesis. Further genetic studies were deemed necessary during follow\u2010up. The child's further development recommended further genetic analyses. High\u2010resolution analysis showed an interstitial deletion on the short arm of a chromosome 8: 46,<jats:styled-content style=\"fixed-case\">XY<\/jats:styled-content>,del(8)(p23.1p23.1). We reviewed the literature and found 102 cases including 54 boys: 62.7% had mental problems, 50.9% a dysmorphic disorder, 55.9% cardiac anomalies, and 46.3% of the boys had genitourinary anomalies. Our patient's genital abnormalities can be explained by the haploinsufficiency of the genes, such as <jats:italic><jats:styled-content style=\"fixed-case\">GATA<\/jats:styled-content>4<\/jats:italic> (<jats:styled-content style=\"fixed-case\">OMIM<\/jats:styled-content>\u00a0600576) that are included in the deleted area.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>This case of severe 46,<jats:styled-content style=\"fixed-case\">XY DSD<\/jats:styled-content> raises the question of the role played by 8p23 microdeletion in gonadal dysgenesis. Clinicians are encouraged to look for this anomaly on chromosome 8 in cases of unexplained gonadal dysgenesis even when few signs suggestive of this anomaly are present.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.558","type":"journal-article","created":{"date-parts":[[2019,1,29]],"date-time":"2019-01-29T04:03:04Z","timestamp":1548734584000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Is interstitial 8p23 microdeletion responsible of 46,<scp>XY<\/scp> gonadal dysgenesis? One case report from birth to puberty"],"prefix":"10.1002","volume":"7","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6639-7643","authenticated-orcid":false,"given":"Kathy","family":"Wagner\u2010Mahler","sequence":"first","affiliation":[{"name":"D\u00e9partement de P\u00e9diatrie Centre Hospitalier de Nice Nice France"},{"name":"H\u00f4pitaux P\u00e9diatriques de Nice CHU Lenval Nice France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean\u2010Yves","family":"Kurzenne","sequence":"additional","affiliation":[{"name":"D\u00e9partement de P\u00e9diatrie Centre Hospitalier de Nice Nice France"},{"name":"H\u00f4pitaux P\u00e9diatriques de Nice CHU Lenval Nice France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frederique","family":"Gastaud","sequence":"additional","affiliation":[{"name":"H\u00f4pitaux P\u00e9diatriques de Nice CHU Lenval Nice France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie","family":"Hoflack","sequence":"additional","affiliation":[{"name":"H\u00f4pitaux P\u00e9diatriques de Nice CHU Lenval Nice France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5894-9778","authenticated-orcid":false,"given":"Patricia","family":"Panaia Ferrari","sequence":"additional","affiliation":[{"name":"D\u00e9partement de Biochimie Centre Hospitalier de Nice Nice France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Etienne","family":"Berard","sequence":"additional","affiliation":[{"name":"D\u00e9partement de P\u00e9diatrie Centre Hospitalier de Nice Nice France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fabienne","family":"Giuliano","sequence":"additional","affiliation":[{"name":"D\u00e9partement de G\u00e9n\u00e9tique Centre Hospitalier de Nice Nice France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Houda","family":"Karmous\u2010Benailly","sequence":"additional","affiliation":[{"name":"D\u00e9partement de G\u00e9n\u00e9tique Centre Hospitalier de Nice Nice France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0741-1609","authenticated-orcid":false,"given":"Pamela","family":"Moceri","sequence":"additional","affiliation":[{"name":"D\u00e9partement de Cardiologie Centre Hospitalier de Nice Nice France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Celine","family":"Jouannelle","sequence":"additional","affiliation":[{"name":"H\u00f4pitaux P\u00e9diatriques de Nice CHU Lenval Nice France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marine","family":"Bourcier","sequence":"additional","affiliation":[{"name":"H\u00f4pitaux P\u00e9diatriques de Nice CHU Lenval Nice France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elise","family":"Robart","sequence":"additional","affiliation":[{"name":"H\u00f4pitaux P\u00e9diatriques de Nice CHU Lenval Nice France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yves","family":"Morel","sequence":"additional","affiliation":[{"name":"Centre Hospitalier Universitaire de Lyon \u2013 HCL GH Est, Centre de Biologie et Pathologie Est Bron France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,1,28]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.85.2.658"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1464-410x.2000.00354.x"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2010.10.003"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32095"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0223(199909)19:9<863::AID-PD640>3.0.CO;2-I"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.27.5.327"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10024-003-2133-7"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35699"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2010.01395.x"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19970919)74:5<515::AID-AJMG12>3.0.CO;2-F"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1086\/302330"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980217)75:5<534::AID-AJMG15>3.0.CO;2-L"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0223(1998100)18:10<1055::AID-PD405>3.0.CO;2-I"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1534"},{"key":"e_1_2_9_16_1","first-page":"171","article-title":"Normal phenotype and slight mental retardation in de novo distal 8p deletion (8pter\u21928p23.1)","volume":"32","author":"Fryns J. P.","year":"1989","journal-title":"Annales de Genetique"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature01827"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1161\/01.CIR.102.4.432"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.2001.tb00174.x"},{"key":"e_1_2_9_20_1","doi-asserted-by":"crossref","first-page":"208","DOI":"10.1002\/ajmg.a.35690","article-title":"Maternal transmission of interstitial 8p23.1 deletion detected during prenatal diagnosis","volume":"161","author":"Guimot F.","year":"2012","journal-title":"American Journal of Medical Genetics. Part A"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.29.6.407"},{"key":"e_1_2_9_22_1","first-page":"363","article-title":"Expression of human SOX7 in normal tissues and tumors","volume":"9","author":"Katoh M.","year":"2002","journal-title":"International Journal of Molecular Medicine"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.85.10.3925"},{"key":"e_1_2_9_24_1","doi-asserted-by":"publisher","DOI":"10.1210\/en.140.3.1470"},{"key":"e_1_2_9_25_1","doi-asserted-by":"publisher","DOI":"10.1089\/dna.2004.23.572"},{"key":"e_1_2_9_26_1","doi-asserted-by":"publisher","DOI":"10.1177\/153537020322801107"},{"key":"e_1_2_9_27_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1468"},{"key":"e_1_2_9_28_1","first-page":"240","article-title":"new cytogenetic techniques applied to a series of children with mental retardation","volume":"23","author":"Lubs H. A.","year":"1973","journal-title":"Nobel Symposia"},{"key":"e_1_2_9_29_1","doi-asserted-by":"publisher","DOI":"10.1095\/biolreprod.106.055137"},{"key":"e_1_2_9_30_1","doi-asserted-by":"crossref","first-page":"544","DOI":"10.1097\/DBP.0000000000000197","article-title":"8p23.1 interstitial deletion in a patient with congenital cardiopathy, neurobehavioral disorders, and minor signs suggesting 22q11.2 deletion syndrome","volume":"36","author":"Molck M.","year":"2015","journal-title":"Journal of Developmental and Behavioral Pediatrics"},{"key":"e_1_2_9_31_1","unstructured":"Morel Y. Mallet D. &Menassa R.(2006).La diff\u00e9renciation sexuelle du f\u0153tus. Confrontations Sud Franciliennes M\u00e9decine Clinique Endocrinologie et Diab\u00e8te \u2010hors s\u00e9rie."},{"key":"e_1_2_9_32_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-001-0854-z"},{"key":"e_1_2_9_33_1","doi-asserted-by":"publisher","DOI":"10.1093\/eurheartj\/ehq508"},{"key":"e_1_2_9_34_1","doi-asserted-by":"publisher","DOI":"10.1002\/dvdy.10153"},{"key":"e_1_2_9_35_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32205"},{"key":"e_1_2_9_36_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1990.tb04189.x"},{"key":"e_1_2_9_37_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990319)83:3<201::AID-AJMG11>3.0.CO;2-V"},{"key":"e_1_2_9_38_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00221946"},{"key":"e_1_2_9_39_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0223(199909)19:9<868::AID-PD641>3.0.CO;2-A"},{"key":"e_1_2_9_40_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.27.5.327"},{"key":"e_1_2_9_41_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000183066.09239.b6"},{"key":"e_1_2_9_42_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30778"},{"key":"e_1_2_9_43_1","volume-title":"G\u00e9n\u00e9tique et pathologie de la diff\u00e9renciation sexuelle","author":"Verloes A.","year":"1998"},{"key":"e_1_2_9_44_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.125.14.2665"},{"key":"e_1_2_9_45_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32896"},{"key":"e_1_2_9_46_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0400752101"},{"key":"e_1_2_9_47_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2009.03.003"},{"key":"e_1_2_9_48_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1100210108"},{"key":"e_1_2_9_49_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19960301)62:1<77::AID-AJMG16>3.0.CO;2-S"}],"container-title":["Molecular Genetics &amp; Genomic Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmgg3.558","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.558","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/mgg3.558","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.558","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,11]],"date-time":"2023-09-11T11:50:20Z","timestamp":1694433020000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mgg3.558"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,1,28]]},"references-count":48,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2019,3]]}},"alternative-id":["10.1002\/mgg3.558"],"URL":"https:\/\/doi.org\/10.1002\/mgg3.558","archive":["Portico"],"relation":{},"ISSN":["2324-9269","2324-9269"],"issn-type":[{"value":"2324-9269","type":"print"},{"value":"2324-9269","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,1,28]]},"assertion":[{"value":"2018-08-16","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2018-12-02","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-01-28","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e558"}}